Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.080 | 8 | 105801714 | missense variant | G/A;T | snv | 3.4E-03; 4.0E-06 | 0.800 | 0 | |||||||
|
3 | 0.882 | 0.240 | 20 | 10658611 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 22 | 19761255 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.240 | 5 | 37058938 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.120 | X | 72572657 | frameshift variant | GG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | MT | 5954 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | MT | 6887 | inframe insertion | -/GGG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | MT | 6900 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | MT | 6925 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | MT | 6939 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | MT | 7638 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | MT | 9273 | protein altering variant | -/ATC | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | MT | 9429 | protein altering variant | -/CCC | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | MT | 9441 | inframe insertion | -/TTT | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 5 | 173235019 | missense variant | T/C;G | snv | 1.3E-04; 4.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 8 | 105802051 | missense variant | A/G | snv | 1.1E-02 | 4.4E-02 | 0.700 | 0 | ||||||
|
19 | 0.763 | 0.280 | 8 | 60850546 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
33 | 0.662 | 0.280 | 10 | 43121968 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.080 | 8 | 11708337 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.080 | 8 | 11758366 | missense variant | C/A;G | snv | 5.1E-04; 6.8E-05 | 0.810 | 1.000 | 1 | 2010 | 2010 | ||||
|
17 | 0.708 | 0.280 | 5 | 173235011 | missense variant | G/A | snv | 3.4E-03 | 1.1E-02 | 0.810 | 1.000 | 1 | 2008 | 2008 | |||
|
17 | 0.807 | 0.280 | 12 | 111634620 | intergenic variant | A/G | snv | 0.29 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 19 | 18869231 | missense variant | C/A;T | snv | 2.1E-04 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 10 | 8912261 | intron variant | A/G | snv | 0.64 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 16 | 52797550 | intergenic variant | T/C | snv | 0.42 | 0.800 | 1.000 | 1 | 2013 | 2013 |